What is the pathophysiology of Hemophilia

What is the pathophysiology of Hemophilia

Hemophilia is a hereditary bleeding disorder caused by deficiencies of clotting factor VIII or IX. It is attributed to deletions, mutations, or inversions affecting the factor VIII or IX gene (Castaman & Matino, 2019). Since these genes are located on the X chromosome, hemophilia primarily affects males. The severity of hemophilia is grouped according to the plasma level of factor VIII or factor IX activity. The severe form of hemophilia is described as a factor level <1% of normal, the moderate form is a factor level of 1-5%, and the mild form is a factor level of 5-40% (Castaman & Matino, 2019). Persons with severe hemophilia often develop hemorrhages into muscles, joints, or soft tissues without obvious causes.

References

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